Nicolas Derive
4PUBLICATIONS
21CO-AUTHORS
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Publications (4)
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|Jan 08, 2025
An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New PTRH2 Gene Variants.Rajech Sharkia, Marie-Laure Vuillaume, Sahil Jain
|Nov 04, 2024
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia.Brian Sperelakis-Beedham, Cyril Gitiaux, Marine Rajaoba
|Sep 13, 2021
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.Charlotte von der Lippe, Kristian Tveten, Trine E Prescott
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Frequent Collaborators
1 joint publications
Charlotte von der Lippe
1 joint publications
Júlia Baptista
1 joint publications
Stephen Jolles
1 joint publications
Roser Urreitzi
1 joint publications
Janet Hoenicka
1 joint publications
Francesc Palau
1 joint publications
Jonathan Lévy
1 joint publications
Wenche M Thorstensen
1 joint publications
Diaddin Hamdan
1 joint publications
Camille Tlemsani
